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Radiographic findings in liveborn triploidy

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Abstract

The detailed radiographic features of triploidy, a fatal congenital disorder with 69 chromosomes, have not previously been reported. Radiographs of ten liveborn infants with chromosomally confirmed triploidy showed six findings highly suggestive of this diagnosis: harlequin orbits, small anterior fontanelle, gracile ribs, diaphyseal overtubulation of long bones, upswept clavicles and antimongoloid pelvis. Sixteen other less specific findings showed many similarities to those found in trisomy 18.

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References

  1. Arakaki DT, Waxman SH (1970) Chromosomal abnormalities in early spontaneous abortions. J Med Genet 6: 118

    Google Scholar 

  2. Doshi N, Surti U, Szulman AE (1983) Morphologic anomalies in triploid liveborn fetuses. Hum Pathol 14: 716

    CAS  PubMed  Google Scholar 

  3. Jacobs PA (1978) Population surveillance: a genetic approach. In: Morton NE, Chung CS (eds) Genetic epidemiology. Academic Press, New York, pp 463

    Google Scholar 

  4. Schrocksnadel H, Guggenbichler P, Rhomberg K, et al. (1982) Complete triploidy (69,XXX) surviving until the age of 7 months. Wien Klin Wochenschr 94: 309

    CAS  PubMed  Google Scholar 

  5. Schmickel RD, Silverman EM, Floyd AD, et al. (1971) A liveborn infant with 69 chromosomes. J Pediatr 79: 97

    CAS  PubMed  Google Scholar 

  6. Niebuhr E (1974) Triploidy in man: cytogenetical and clinical aspects. Humangenetik 21: 103

    CAS  PubMed  Google Scholar 

  7. Leisti JT, Ravio KO, Rapola MH, et al. (1974) The phenotype of human triploidy. Birth Defects 10: 248

    CAS  PubMed  Google Scholar 

  8. Wertelecki W, Graham JM, Sergovich FR (1976) The clinical syndrome of triploidy. Obstet Gynecol 47: 69

    CAS  PubMed  Google Scholar 

  9. Gosden CM, Wright MO, Patterson WG, et al. (1976) Clinical details, cytogenetic studies, and cellular physiology of a 69,XXX fetus, with comments on the biological effect of triploidy in man. J Med Genet 13: 371

    CAS  PubMed  Google Scholar 

  10. Dudakov E, Perlman M, Ornoy A, et al. (1977) Triploidy in man:. a clearly recognizable syndrome? Isr J Med Sci 13: 493

    CAS  PubMed  Google Scholar 

  11. Blackburn WR, Miller WP, Superneau, et al. (1982) Comparative studies of infants with mosaic and complete triploidy: an analysis of 55 cases. Birth Defects 18: 251

    CAS  PubMed  Google Scholar 

  12. Crane JP, Beaver HA, Cheung SW (1985) Antenatal ultrasound findings in fetal triploidy syndrome. J Ultrasound Med 4: 519

    CAS  PubMed  Google Scholar 

  13. Edwards MT, Smith WL, Hanson J, et al. (1986) Prenatal sonographic diagnosis in triploidy. J Ultrasound Med 5: 279

    CAS  PubMed  Google Scholar 

  14. Rubenstein JB, Swayne LC, Dise CA, et al. (1986) Placental changes in fetal triploidy syndrome. J Ultrasound Med 5: 545

    CAS  PubMed  Google Scholar 

  15. Saadi A, Juliar JF, Harm J, et al. (1976) Triploidy syndrome: a report on two liveborn (69,XXY) and one still-born (69,XXX) infants. Clin Genet 9: 43

    CAS  PubMed  Google Scholar 

  16. Fraikor AL, Vigneswaran R, Honeyfield P (1980) Live-born triploidy. Am J Dis Child 134: 988

    CAS  PubMed  Google Scholar 

  17. Zergollern LJ, Drazancic A, Damjanov I, et al. (1972) A liveborn infant with triploidy (69,XXX). Z Kinderheilkd 112: 293

    Article  Google Scholar 

  18. Prats J, Sarret E, Moragas A, et al. (1971) Triploid live full-term infant. Helv Paediatr Acta 2: 164

    Google Scholar 

  19. Francesconi D, Magrini U, Pasquali F, et al. (1978) A liveborn triploid (69,XXY). Ann Genet 21: 92

    Google Scholar 

  20. Sacrez R, Clavert J, Willard D, et al. (1967) La triploid chez l'enfant. Pediatrie 22: 267

    CAS  PubMed  Google Scholar 

  21. Grouchy J, Roubin M, Risse JC, et al. (1974) Enfant triploide (69,XXX) ayant vecu neuf jours. Ann Genet 17: 283

    PubMed  Google Scholar 

  22. Moen DW, Werner JK, Bersu ET (1984) Analysis of gross anatomic variations in human triploidy. Am J Med Genet 18: 345

    Article  CAS  PubMed  Google Scholar 

  23. Niebuhr E, Sparrevohn S, Henningsen K, et al. (1972) A case of liveborn triploidy (69,XXX). Acta Paediatr Scand 61: 203

    CAS  PubMed  Google Scholar 

  24. Therapel AT, Wilroy RS, Martens PR, et al. (1983) Diploidtriploid mosaicism: delineation of the syndrome. Ann Genet 26: 229

    Google Scholar 

  25. Ozonoff MB, Steinbach HL, Mamunes P (1964) The trisomy 18 syndrome. AJR 91: 618

    CAS  Google Scholar 

  26. Berdon WE (1972) Radiologic findings in the evaluation of the common autosomal disorders. Dev Med Child Neurol 14: 226

    CAS  PubMed  Google Scholar 

  27. Drachman DB, Angus CW, Adams RN, et al. (1978) Effect of myasthenic patient's immunoglobulin on acetylcholine receptor turnover: selectivity of degradation process. Proc Natl Acad Sci USA 75: 3422

    CAS  PubMed  Google Scholar 

  28. Moessinger AC, Marone PA, Blanc WA (1981) Animal model: Syndrome of camptodactyly, multiple ankyloses, facial anomalies, and pulmonary hypoplasia, polyhydramnios, and short umbilical cord. Birth Defects 17: 78

    Google Scholar 

  29. Astley R (1966) Trisomy 17/18. Br J Radiol 39: 86

    Google Scholar 

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Authors and Affiliations

  1. Department of Radiology, B.C. Children's Hospital, Vancouver, British Columbia, Canada

    D. E. Newman & B. J. Wood

  2. Department of Radiology, University Hospital, S7N OXO, Saskatoon, Saskatchewan, Canada

    K. G. Silverthorn & C. S. Houston

Authors
  1. K. G. Silverthorn
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  2. C. S. Houston
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  3. D. E. Newman
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  4. B. J. Wood
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Silverthorn, K.G., Houston, C.S., Newman, D.E. et al. Radiographic findings in liveborn triploidy. Pediatr Radiol 19, 237–241 (1989). https://doi.org/10.1007/BF02386842

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  • DOI: https://doi.org/10.1007/BF02386842

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